title: Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation.
abstract: An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported. Patients with juvenile polyps should be examined carefully for mucocutaneus findings and digital clubbing. When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.
authors.affiliation: Department of Pediatric Gastroenterology, Baflkent University School of Medicine, Ankara, Turkey. oyabalci@yahoo.com
authors.forename: Oya
authors.initials: O
authors.lastname: Balci
authors.forename: Figen
authors.initials: F
authors.lastname: Özçay
mesh_terms: D000293:Adolescent; D018798:Anemia, Iron-Deficiency / Q000150:complications / Q000235:genetics; D002648:Child; D003111:Colonic Polyps / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D000860:Hypoxia / Q000150:complications / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000235:genetics*
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein